D23Y (p.Asp23Tyr) variant of POLE (Q07864)
D23Y (p.Asp23Tyr) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D23Y (p.Asp23Tyr) variant details
- p.Asp23Tyr
- rs970095477
- ClinGen CA387370708
- ClinVar RCV003160539
- ClinVar RCV003541136
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.32
- CADD 23.10
- PolyPhen-2 0.17
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)